Canonical Allele Identifier: CA1085302117

Gene: GMDS

Linked Data

• dbSNP Id: rs1761498606

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1918133A>G , CM000668.2:g.1918133A>G	GRCh38
NC_000006.11:g.1918367A>G , CM000668.1:g.1918367A>G	GRCh37
NC_000006.10:g.1863366A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380815.5:c.771+11970T>C MANE Select	ENSP00000370194.4:n.771+11970T>C
ENST00000380805.6:n.897+11970T>C
ENST00000380815.4:c.771+11970T>C	ENSP00000370194.4:n.771+11970T>C
ENST00000530927.5:c.681+11970T>C	ENSP00000436726.1:n.681+11970T>C
ENST00000531690.5:n.250+11970T>C
NM_001253846.1:c.681+11970T>C	NP_001240775.1:n.681+11970T>C
NM_001500.3:c.771+11970T>C	NP_001491.1:n.771+11970T>C
XM_006715066.1:c.772-8146T>C	XP_006715129.1:n.772-8146T>C
XM_011514500.1:c.681+11970T>C	XP_011512802.1:n.681+11970T>C
XM_011514501.1:c.771+11970T>C	XP_011512803.1:n.771+11970T>C
XM_011514502.1:c.771+11970T>C	XP_011512804.1:n.771+11970T>C
XM_011514507.1:c.643+41734T>C	XP_011512809.1:n.643+41734T>C
XM_006715066.3:c.772-8146T>C	XP_006715129.1:n.772-8146T>C
XM_011514502.3:c.771+11970T>C	XP_011512804.1:n.771+11970T>C
XM_011514507.2:c.643+41734T>C	XP_011512809.1:n.643+41734T>C
XM_017010752.1:c.510+11970T>C	XP_016866241.1:n.510+11970T>C
XR_001743349.2:n.954+11970T>C
XR_001743350.2:n.955-8146T>C
NM_001500.4:c.771+11970T>C MANE Select	NP_001491.1:n.771+11970T>C
NM_001253846.2:c.681+11970T>C	NP_001240775.1:n.681+11970T>C